Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene.

Abstract:

:Substitutions of single glycine residues of alpha 1(I) collagen have previously been associated with the inherited disease osteogenesis imperfecta type II. Transgenic mice bearing a mutant alpha 1(I) collagen gene into which specific glycine substitutions have been engineered show a dominant lethal phenotype characteristic of the human disease, and demonstrate that as little as 10% mutant gene expression can disrupt normal collagen function.

journal_name

Nature

journal_title

Nature

authors

Stacey A,Bateman J,Choi T,Mascara T,Cole W,Jaenisch R

doi

10.1038/332131a0

subject

Has Abstract

pub_date

1988-03-10 00:00:00

pages

131-6

issue

6160

eissn

0028-0836

issn

1476-4687

journal_volume

332

pub_type

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